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Sjögren-Larsson syndrome: A study of clinical symptoms in six children

Sjögren-Larsson syndrome (SLS) is a rare autosomal recessive disorder characterized by triad of congenital ichthyosis, spastic paresis, and mental retardation. It is an inborn error of lipid metabolism caused by deficiency of the enzyme fatty aldehyde dehydrogenase. We report our observations of six...

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Detalhes bibliográficos
Main Authors: Srinivas, Sahana M., Raju, KN Vykunta, Hiremagalore, Ravi
Formato: Artigo
Idioma:Inglês
Publicado em: Medknow Publications & Media Pvt Ltd 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4030352/
https://ncbi.nlm.nih.gov/pubmed/24860759
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.4103/2229-5178.131099
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